view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGBD2_chr1_248901235_248924146 | 248911331 | C | CCTGCCTT others(5588): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 397 | 0.0025 | 5595 | c.-47 others(5612): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGAGGGAC others(5589): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 20 | 0.0500 | 5596 | c.351 others(5615): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35585876 | G | GAAGAAAA others(5597): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0357 | 1 | 366 | 0.0027 | 5604 | c.-15 others(5615): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1445 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35585876 | G | GAAGAAAA others(5597): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0360 | 1 | 366 | 0.0027 | 5604 | c.-15 others(5615): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1445 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35585876 | G | GAAGAAAA others(5598): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0358 | 1 | 366 | 0.0027 | 5605 | c.-15 others(5616): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1445 | chr17 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693729 | A | ACCACCAC others(5598): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 167 | 0.0060 | 5605 | c.*67 others(5616): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4917 | chr20 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586551 | A | AGGGGAAA others(5598): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0209 | 1 | 172 | 0.0058 | 5605 | c.157 others(5622): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693729 | A | ACCACCAC others(5598): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 36 | 0.0278 | 5605 | c.299 others(5622): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35585876 | G | GAAGAAAA others(5599): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0359 | 1 | 366 | 0.0027 | 5606 | c.-15 others(5617): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1445 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35585876 | G | GAAGAAAA others(5600): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0356 | 1 | 366 | 0.0027 | 5607 | c.-15 others(5618): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1445 | chr17 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156471927 | A | AGACAGTG others(5601): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 146 | 0.0068 | 5608 | c.193 others(5627): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTTCCTTC others(5602): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 2 | 0.5000 | 5609 | c.125 others(5626): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156471927 | A | AGACAGTG others(5602): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0017 | a0001c0004t0001g0009 a0001c0004t0017g0007 |
2 | 147 | 0.0136 | 5609 | c.193 others(5628): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5603): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0020 | 1 | 212 | 0.0047 | 5610 | c.225 others(5627): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5603): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0025 | 1 | 2 | 0.5000 | 5610 | c.477 others(5631): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(5603): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216 | 1 | 225 | 0.0044 | 5610 | c.225 others(5627): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(5603): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0287 | 1 | 225 | 0.0044 | 5610 | c.225 others(5627): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(5603): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 225 | 0.0044 | 5610 | c.225 others(5627): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(5603): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0009 | a0009c0009 | a0009c0009t0012 | a0009c0009t0012g0262 | 1 | 32 | 0.0313 | 5610 | c.218 others(5625): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56771481 | T | TCCTCCGC others(5603): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 154 | 0.0065 | 5610 | c.*16 others(5631): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(5605): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0140 | 1 | 152 | 0.0066 | 5612 | c.228 others(5633): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(5605): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0003 | a0002c0003t0022 | a0002c0003t0022g0143 | 1 | 152 | 0.0066 | 5612 | c.228 others(5633): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(5605): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0108 | 1 | 152 | 0.0066 | 5612 | c.228 others(5633): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC11_chr5_790605_855986 | 822200 | T | TTAGAGTG others(5607): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0020 | a0020c0025 | a0020c0025t0004 | a0020c0025t0004g0063 | 1 | 305 | 0.0033 | 5614 | c.102 others(5631): Show |
ZDHHC11 | ENSG00000188818.13 | transcript | ENST00000283441.13 | protein_coding | 8/12 | chr5 | TogoVar | |||||||
ZDHHC11_chr5_790605_855986 | 823600 | T | TGCATTTT others(5607): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0014 | a0014c0023 | a0014c0023t0004 | a0014c0023t0004g0065 | 1 | 162 | 0.0062 | 5614 | c.102 others(5633): Show |
ZDHHC11 | ENSG00000188818.13 | transcript | ENST00000283441.13 | protein_coding | 8/12 | chr5 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95898205 | G | GCAAGCAT others(5609): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0151 | 1 | 283 | 0.0035 | 5616 | c.347 others(5633): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 58/87 | chr2 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95898205 | G | GCAAGCAT others(5609): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0141 | 1 | 283 | 0.0035 | 5616 | c.347 others(5633): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 58/87 | chr2 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95906938 | G | GATGGCTT others(5609): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0020 | 1 | 197 | 0.0051 | 5616 | c.296 others(5633): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 48/87 | chr2 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5610): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0008 | a0008c0042 | a0008c0042t0004 | a0008c0042t0004g0231 | 1 | 212 | 0.0047 | 5617 | c.225 others(5634): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(5613): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0191 | 1 | 198 | 0.0051 | 5620 | c.340 others(5637): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(5615): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0042 | a0042c0092 | a0042c0092t0001 | a0042c0092t0001g0174 | 1 | 34 | 0.0294 | 5622 | c.299 others(5637): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065481 | G | ACTGTTGT others(5616): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0276 | 1 | 329 | 0.0030 | 5623 | c.118 others(5642): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065481 | G | ACTGTTGT others(5616): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0271 | 1 | 329 | 0.0030 | 5623 | c.118 others(5642): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5617): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 55 | 0.0182 | 5624 | c.891 others(5639): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948419 | A | ATGGTGGT others(5618): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0127 | 1 | 3 | 0.3333 | 5625 | c.47- others(5642): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(5621): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0008 | a0008c0009 | a0008c0009t0008 | a0008c0009t0008g0043 | 1 | 4 | 0.2500 | 5628 | c.296 others(5645): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8620728 | T | TTTGTGGG others(5623): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0278 | 1 | 342 | 0.0029 | 5630 | c.*11 others(5641): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 977 | chr4 | TogoVar | |||||||
CPZ_chr4_8587765_8624752 | 8620728 | T | TTTGTGGG others(5623): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 | 1 | 342 | 0.0029 | 5630 | c.*11 others(5641): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 977 | chr4 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586452 | G | GGGGGGAA others(5624): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0106 | 1 | 297 | 0.0034 | 5631 | c.157 others(5648): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5624): Show |
upstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 8 | 0.1250 | 5631 | c.-45 others(5640): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
CPZ_chr4_8587765_8624752 | 8620728 | T | TTTGTGGG others(5626): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 342 | 0.0029 | 5633 | c.*11 others(5644): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 977 | chr4 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(5629): Show |
intron_variant | MODIFIER | HG02027.hp2 NA19009.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016a0001c0001t0023 | a0001c0001t0001g0144 a0001c0001t0016g0148 a0001c0001t0023g0145 |
3 | 39 | 0.0769 | 5636 | c.327 others(5653): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5633): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 2 | 0.5000 | 5640 | c.477 others(5661): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5633): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0074 | 1 | 2 | 0.5000 | 5640 | c.477 others(5661): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5633): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0010 | a0001c0010t0008 | a0001c0010t0008g0069 | 1 | 2 | 0.5000 | 5640 | c.477 others(5661): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716520 | G | GGGGAGGA others(5634): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0158 | 1 | 157 | 0.0064 | 5641 | c.86- others(5652): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5635): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 173 | 0.0058 | 5642 | c.127 others(5659): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5635): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 | 1 | 173 | 0.0058 | 5642 | c.127 others(5659): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5635): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 173 | 0.0058 | 5642 | c.127 others(5659): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTGGTAG others(5638): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0215 | 1 | 158 | 0.0063 | 5645 | c.126 others(5662): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |